R597W (p.Arg597Trp) variant of POLG (DNA polymerase subunit gamma-1)
R597W (p.Arg597Trp) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Progressive external ophthalmoplegia with mitochondrial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R597W (p.Arg597Trp) variant details
- p.Arg597Trp
- rs139717885
- ClinGen CA7724686
- cosmic curated COSV99174
- ClinVar RCV000438492
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Progressive external ophthalmoplegia with mitochondrial
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.95
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Progressive external ophthalmoplegia wi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)